Wird geladen...

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and chil...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Hauptverfasser:	BRASHEAR, ALLISON, MINK, JONATHAN, HILL, DEBORAH F, BOGGS, NIKI, MCCALL, W VAUGHN, STACY, MARK, SNIVELY, BEVERLY, LIGHT, L S, SWEADNER, KATHLEEN, OZELIUS, LAURIE J, MORRISON, LESLIE
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	2012
Schlagworte:	Article
Online Zugang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC3465467/ https://ncbi.nlm.nih.gov/pubmed/22924536 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-8749.2012.04421.x
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia

Ähnliche Einträge